Jamsheer A - Search Results

1

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.

Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: jamsheer a. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.

2

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A. Jamsheer A, et al. J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687. J Appl Genet. 2009. PMID: 19638688

3

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR. Wawrocka A, et al. Among authors: jamsheer a. Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10. Ophthalmic Genet. 2012. PMID: 21985185

4

Hypothalamic amenorrhea in a Camurati-Engelmann disease--a case report.

Meczekalski B, Czyzyk A, Podfigurna-Stopa A, Rydzewski B, Sroczynski J, Lipinska M, Sokalski J, Krawczynski M, Jamsheer A, Katulski K, Genazzani A. Meczekalski B, et al. Among authors: jamsheer a. Gynecol Endocrinol. 2013 May;29(5):511-4. doi: 10.3109/09513590.2012.760196. Epub 2013 Feb 1. Gynecol Endocrinol. 2013. PMID: 23368730 Review.

5

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A. Jamsheer A, et al. J Hum Genet. 2016 May;61(5):457-61. doi: 10.1038/jhg.2015.172. Epub 2016 Jan 14. J Hum Genet. 2016. PMID: 26763883

6

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Jamsheer A, Olech EM, Kozłowski K, Niedziela M, Sowińska-Seidler A, Obara-Moszyńska M, Latos-Bieleńska A, Karczewski M, Zemojtel T. Jamsheer A, et al. J Hum Genet. 2016 Jul;61(7):577-83. doi: 10.1038/jhg.2016.30. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030147

7

X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes.

Rojek A, Krawczynski MR, Jamsheer A, Sowinska-Seidler A, Iwaniszewska B, Malunowicz E, Niedziela M. Rojek A, et al. Among authors: jamsheer a. Int J Endocrinol. 2016;2016:5178953. doi: 10.1155/2016/5178953. Epub 2016 Aug 30. Int J Endocrinol. 2016. PMID: 27656210 Free PMC article.

8

Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations.

Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, Latos-Bielenska A, Zachwieja K. Walczak-Sztulpa J, et al. Among authors: jamsheer a. Birth Defects Res. 2018 Mar 1;110(4):376-381. doi: 10.1002/bdr2.1151. Epub 2017 Nov 14. Birth Defects Res. 2018. PMID: 29134781

9

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Walczak-Sztulpa J, Posmyk R, Bukowska-Olech EM, Wawrocka A, Jamsheer A, Oud MM, Schmidts M, Arts HH, Latos-Bielenska A, Wasilewska A. Walczak-Sztulpa J, et al. Among authors: jamsheer a. Orphanet J Rare Dis. 2020 Feb 1;15(1):36. doi: 10.1186/s13023-020-1303-2. Orphanet J Rare Dis. 2020. PMID: 32007091 Free PMC article.

10

Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?

Wawrocka A, Walczak-Sztulpa J, Bukowska-Olech E, Jamsheer A, Jaworski M, Jaworski P, Krawczynski MR. Wawrocka A, et al. Among authors: jamsheer a. Jpn J Ophthalmol. 2020 Mar;64(2):134-139. doi: 10.1007/s10384-020-00715-6. Epub 2020 Feb 3. Jpn J Ophthalmol. 2020. PMID: 32016663

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